How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2008-03

AUTHORS

Jennifer Saam, Jim Gudgeon, Emily Aston, Arthur R. Brothman

ABSTRACT

PURPOSE: Array comparative genomic hybridization is an emerging test used clinically to identify the etiology of children with developmental delay, yet little data are available regarding how physicians use these results. This pilot study evaluated how positive test results were used to influence patient management. METHODS: We surveyed 14 physicians of 48 patients who had copy number changes detected by microarray technology. RESULTS: Of 48 patients, 34 (70.8%) had 65 management changes after receiving the test result (with individual patients having 1-3 changes). Most commonly, physicians provided patients' families with a recurrence risk for affected subsequent pregnancies (35% of patients). Patients avoided other forms of testing (35%) and had improved access to services (25%). In 27% of patients, physicians altered medical management by referring patients to a specialist or recommending medical screening. Patients with known syndromes had multiple changes, but patients with novel copy number changes also had recommendations made based on the array result. CONCLUSIONS: Overall, physicians reported making changes in management among most patients with positive test results, in ways similar to abnormalities detected by conventional cytogenetics. Our study demonstrates that this testing, in our clinical setting, is affecting management of children with developmental delay. More... »

PAGES

181-186

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1097/gim.0b013e3181634eca

DOI

http://dx.doi.org/10.1097/gim.0b013e3181634eca

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016187326

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18344707


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Developmental Disabilities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "In Situ Hybridization, Fluorescence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nucleic Acid Hybridization", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Oligonucleotide Array Sequence Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Practice Patterns, Physicians'", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Utah", 
          "id": "https://www.grid.ac/institutes/grid.223827.e", 
          "name": [
            "From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Saam", 
        "givenName": "Jennifer", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Utah", 
          "id": "https://www.grid.ac/institutes/grid.223827.e", 
          "name": [
            "From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gudgeon", 
        "givenName": "Jim", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Utah", 
          "id": "https://www.grid.ac/institutes/grid.223827.e", 
          "name": [
            "From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Aston", 
        "givenName": "Emily", 
        "id": "sg:person.01117717267.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117717267.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Utah", 
          "id": "https://www.grid.ac/institutes/grid.223827.e", 
          "name": [
            "From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah., From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah., From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brothman", 
        "givenName": "Arthur R.", 
        "id": "sg:person.0741216567.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741216567.09"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/ajmg.c.10015", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004867992"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2005.032268", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007225487"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000095922", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010692617"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.38.3.145", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013110718"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.30571", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014182766"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2005.039453", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019498605"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2006-1006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019616212"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jpeds.2006.02.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019867875"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19971112)72:4<468::aid-ajmg18>3.0.co;2-p", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028795084"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1997.tb07395.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035972590"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1997.tb07395.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035972590"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1527", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037590541"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-3016.2004.00597.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040263534"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng2092", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045103135", 
          "https://doi.org/10.1038/ng2092"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2004.029637", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046155455"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/491719", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058776355"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/491719", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058776355"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1079683647", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2008-03", 
    "datePublishedReg": "2008-03-01", 
    "description": "PURPOSE: Array comparative genomic hybridization is an emerging test used clinically to identify the etiology of children with developmental delay, yet little data are available regarding how physicians use these results. This pilot study evaluated how positive test results were used to influence patient management.\nMETHODS: We surveyed 14 physicians of 48 patients who had copy number changes detected by microarray technology.\nRESULTS: Of 48 patients, 34 (70.8%) had 65 management changes after receiving the test result (with individual patients having 1-3 changes). Most commonly, physicians provided patients' families with a recurrence risk for affected subsequent pregnancies (35% of patients). Patients avoided other forms of testing (35%) and had improved access to services (25%). In 27% of patients, physicians altered medical management by referring patients to a specialist or recommending medical screening. Patients with known syndromes had multiple changes, but patients with novel copy number changes also had recommendations made based on the array result.\nCONCLUSIONS: Overall, physicians reported making changes in management among most patients with positive test results, in ways similar to abnormalities detected by conventional cytogenetics. Our study demonstrates that this testing, in our clinical setting, is affecting management of children with developmental delay.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1097/gim.0b013e3181634eca", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1119411", 
        "issn": [
          "1098-3600", 
          "1530-0366"
        ], 
        "name": "Genetics in Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "10"
      }
    ], 
    "name": "How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay", 
    "pagination": "181-186", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "4d2115c24d1583e8ce28a218cbe81620f4632b34e2853882b524979966d3a868"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "18344707"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9815831"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1097/gim.0b013e3181634eca"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1016187326"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1097/gim.0b013e3181634eca", 
      "https://app.dimensions.ai/details/publication/pub.1016187326"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T11:41", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000358_0000000358/records_127444_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:landingpage&an=0125817-200803000-00004"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181634eca'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181634eca'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181634eca'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181634eca'


 

This table displays all metadata directly associated to this object as RDF triples.

165 TRIPLES      21 PREDICATES      52 URIs      28 LITERALS      16 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1097/gim.0b013e3181634eca schema:about N0f3d35e9a8964b0eb7f2a1dd568ccdcc
2 N517e26e970144ccead5a06bcac9cc7e3
3 N55c73960cdd1426ead5f0c608c70ecb7
4 N6f5a2372d5e94d2ba48e5fa00d6770f4
5 N8c15a7547b2741a1b86e82e07fb0811a
6 Nb3a0063f5b0c4b1a9cef9f44081c9afa
7 Nf63d7d65c28b48539e42af699c1681da
8 anzsrc-for:11
9 anzsrc-for:1103
10 schema:author N834dad25d38146ffa85c1f6b6c84f9c6
11 schema:citation sg:pub.10.1038/ng2092
12 https://app.dimensions.ai/details/publication/pub.1079683647
13 https://doi.org/10.1002/(sici)1096-8628(19971112)72:4<468::aid-ajmg18>3.0.co;2-p
14 https://doi.org/10.1002/ajmg.1527
15 https://doi.org/10.1002/ajmg.a.30571
16 https://doi.org/10.1002/ajmg.c.10015
17 https://doi.org/10.1016/j.jpeds.2006.02.006
18 https://doi.org/10.1086/491719
19 https://doi.org/10.1111/j.1365-3016.2004.00597.x
20 https://doi.org/10.1111/j.1469-8749.1997.tb07395.x
21 https://doi.org/10.1136/jmg.2004.029637
22 https://doi.org/10.1136/jmg.2005.032268
23 https://doi.org/10.1136/jmg.2005.039453
24 https://doi.org/10.1136/jmg.38.3.145
25 https://doi.org/10.1159/000095922
26 https://doi.org/10.1542/peds.2006-1006
27 schema:datePublished 2008-03
28 schema:datePublishedReg 2008-03-01
29 schema:description PURPOSE: Array comparative genomic hybridization is an emerging test used clinically to identify the etiology of children with developmental delay, yet little data are available regarding how physicians use these results. This pilot study evaluated how positive test results were used to influence patient management. METHODS: We surveyed 14 physicians of 48 patients who had copy number changes detected by microarray technology. RESULTS: Of 48 patients, 34 (70.8%) had 65 management changes after receiving the test result (with individual patients having 1-3 changes). Most commonly, physicians provided patients' families with a recurrence risk for affected subsequent pregnancies (35% of patients). Patients avoided other forms of testing (35%) and had improved access to services (25%). In 27% of patients, physicians altered medical management by referring patients to a specialist or recommending medical screening. Patients with known syndromes had multiple changes, but patients with novel copy number changes also had recommendations made based on the array result. CONCLUSIONS: Overall, physicians reported making changes in management among most patients with positive test results, in ways similar to abnormalities detected by conventional cytogenetics. Our study demonstrates that this testing, in our clinical setting, is affecting management of children with developmental delay.
30 schema:genre research_article
31 schema:inLanguage en
32 schema:isAccessibleForFree false
33 schema:isPartOf N07b180dc3caa49b98d36465b72165d72
34 N158be650507a4bebbe1624248f9f5de9
35 sg:journal.1119411
36 schema:name How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay
37 schema:pagination 181-186
38 schema:productId N0553015e32ae425b82bc5a5786232f95
39 N8473ab4a72714b3dafeab3e68540494b
40 Na766f6c6c91948ee86428419dca491f9
41 Nc3660975edef4baab213446b4cf94114
42 Nebe9bcb801ef4d22b628671d74208ec2
43 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016187326
44 https://doi.org/10.1097/gim.0b013e3181634eca
45 schema:sdDatePublished 2019-04-11T11:41
46 schema:sdLicense https://scigraph.springernature.com/explorer/license/
47 schema:sdPublisher N7c1042b1997b4015a250fd2c91033290
48 schema:url http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:landingpage&an=0125817-200803000-00004
49 sgo:license sg:explorer/license/
50 sgo:sdDataset articles
51 rdf:type schema:ScholarlyArticle
52 N0553015e32ae425b82bc5a5786232f95 schema:name readcube_id
53 schema:value 4d2115c24d1583e8ce28a218cbe81620f4632b34e2853882b524979966d3a868
54 rdf:type schema:PropertyValue
55 N07b180dc3caa49b98d36465b72165d72 schema:issueNumber 3
56 rdf:type schema:PublicationIssue
57 N0f34d4d8e8d44623af727c0bd898d964 schema:affiliation https://www.grid.ac/institutes/grid.223827.e
58 schema:familyName Gudgeon
59 schema:givenName Jim
60 rdf:type schema:Person
61 N0f3d35e9a8964b0eb7f2a1dd568ccdcc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
62 schema:name Oligonucleotide Array Sequence Analysis
63 rdf:type schema:DefinedTerm
64 N158be650507a4bebbe1624248f9f5de9 schema:volumeNumber 10
65 rdf:type schema:PublicationVolume
66 N298060f457674f39992367654bb5c392 rdf:first N0f34d4d8e8d44623af727c0bd898d964
67 rdf:rest N4109e28e23e3489fa1b81e1cd3663d83
68 N4109e28e23e3489fa1b81e1cd3663d83 rdf:first sg:person.01117717267.44
69 rdf:rest N8e020d67c0404e798760eb22f4567bb4
70 N517e26e970144ccead5a06bcac9cc7e3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
71 schema:name Developmental Disabilities
72 rdf:type schema:DefinedTerm
73 N55c73960cdd1426ead5f0c608c70ecb7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Humans
75 rdf:type schema:DefinedTerm
76 N6f5a2372d5e94d2ba48e5fa00d6770f4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Practice Patterns, Physicians'
78 rdf:type schema:DefinedTerm
79 N7c1042b1997b4015a250fd2c91033290 schema:name Springer Nature - SN SciGraph project
80 rdf:type schema:Organization
81 N834dad25d38146ffa85c1f6b6c84f9c6 rdf:first Nd166883c51c74cf69279862ca594eea2
82 rdf:rest N298060f457674f39992367654bb5c392
83 N8473ab4a72714b3dafeab3e68540494b schema:name doi
84 schema:value 10.1097/gim.0b013e3181634eca
85 rdf:type schema:PropertyValue
86 N8c15a7547b2741a1b86e82e07fb0811a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Nucleic Acid Hybridization
88 rdf:type schema:DefinedTerm
89 N8e020d67c0404e798760eb22f4567bb4 rdf:first sg:person.0741216567.09
90 rdf:rest rdf:nil
91 Na766f6c6c91948ee86428419dca491f9 schema:name dimensions_id
92 schema:value pub.1016187326
93 rdf:type schema:PropertyValue
94 Nb3a0063f5b0c4b1a9cef9f44081c9afa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
95 schema:name In Situ Hybridization, Fluorescence
96 rdf:type schema:DefinedTerm
97 Nc3660975edef4baab213446b4cf94114 schema:name pubmed_id
98 schema:value 18344707
99 rdf:type schema:PropertyValue
100 Nd166883c51c74cf69279862ca594eea2 schema:affiliation https://www.grid.ac/institutes/grid.223827.e
101 schema:familyName Saam
102 schema:givenName Jennifer
103 rdf:type schema:Person
104 Nebe9bcb801ef4d22b628671d74208ec2 schema:name nlm_unique_id
105 schema:value 9815831
106 rdf:type schema:PropertyValue
107 Nf63d7d65c28b48539e42af699c1681da schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Child
109 rdf:type schema:DefinedTerm
110 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
111 schema:name Medical and Health Sciences
112 rdf:type schema:DefinedTerm
113 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
114 schema:name Clinical Sciences
115 rdf:type schema:DefinedTerm
116 sg:journal.1119411 schema:issn 1098-3600
117 1530-0366
118 schema:name Genetics in Medicine
119 rdf:type schema:Periodical
120 sg:person.01117717267.44 schema:affiliation https://www.grid.ac/institutes/grid.223827.e
121 schema:familyName Aston
122 schema:givenName Emily
123 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117717267.44
124 rdf:type schema:Person
125 sg:person.0741216567.09 schema:affiliation https://www.grid.ac/institutes/grid.223827.e
126 schema:familyName Brothman
127 schema:givenName Arthur R.
128 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741216567.09
129 rdf:type schema:Person
130 sg:pub.10.1038/ng2092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045103135
131 https://doi.org/10.1038/ng2092
132 rdf:type schema:CreativeWork
133 https://app.dimensions.ai/details/publication/pub.1079683647 schema:CreativeWork
134 https://doi.org/10.1002/(sici)1096-8628(19971112)72:4<468::aid-ajmg18>3.0.co;2-p schema:sameAs https://app.dimensions.ai/details/publication/pub.1028795084
135 rdf:type schema:CreativeWork
136 https://doi.org/10.1002/ajmg.1527 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037590541
137 rdf:type schema:CreativeWork
138 https://doi.org/10.1002/ajmg.a.30571 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014182766
139 rdf:type schema:CreativeWork
140 https://doi.org/10.1002/ajmg.c.10015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004867992
141 rdf:type schema:CreativeWork
142 https://doi.org/10.1016/j.jpeds.2006.02.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019867875
143 rdf:type schema:CreativeWork
144 https://doi.org/10.1086/491719 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058776355
145 rdf:type schema:CreativeWork
146 https://doi.org/10.1111/j.1365-3016.2004.00597.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1040263534
147 rdf:type schema:CreativeWork
148 https://doi.org/10.1111/j.1469-8749.1997.tb07395.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035972590
149 rdf:type schema:CreativeWork
150 https://doi.org/10.1136/jmg.2004.029637 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046155455
151 rdf:type schema:CreativeWork
152 https://doi.org/10.1136/jmg.2005.032268 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007225487
153 rdf:type schema:CreativeWork
154 https://doi.org/10.1136/jmg.2005.039453 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019498605
155 rdf:type schema:CreativeWork
156 https://doi.org/10.1136/jmg.38.3.145 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013110718
157 rdf:type schema:CreativeWork
158 https://doi.org/10.1159/000095922 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010692617
159 rdf:type schema:CreativeWork
160 https://doi.org/10.1542/peds.2006-1006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019616212
161 rdf:type schema:CreativeWork
162 https://www.grid.ac/institutes/grid.223827.e schema:alternateName University of Utah
163 schema:name From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah.
164 From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah., From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah., From the University of Utah Genetic Counseling Program, Department of Human Genetics, Salt Lake City, Utah; Clinical Genetics Institute, Intermountain Healthcare, Salt Lake City, Utah; and the Departments of Pediatrics, Human Genetics, and Pathology, University of Utah CGH Microarray Laboratory, Salt Lake City, Utah.
165 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...